Rare Form of Diabetes Leads to Injection Free Treatment

Three years after she made medical history and was freed from painful insulin injections, 9-year-old Lilly Jaffe is just beginning to understand how much her story changed the course of diabetes research and treatment.

Since her breakthrough, 70 other children and several adults in the U.S. also have been able to switch from insulin shots to oral medication. And last month, her story inspired Illinois’ adoption of “Lilly’s Law,” which established a registry in hopes of helping other children and gathering more genetic information on diabetes.

“When I first got off insulin, I was happy, a little nervous and confused,” Lilly said during an interview at her North Shore Chicago home. “Now I know that if I hadn’t shared my story, then none of those children would have known about this. I want even more people to know.”

Lilly’s story began when researchers at the University of Chicago found she had a rare genetic mutation known as monogenic diabetes. Although she had been taking insulin injections since she was a baby, the discovery allowed her to take pills usually used to treat a milder Type 2 diabetes instead.

A September 2006 story about Lilly’s diagnosis by Tribune science writer Peter Gorner triggered hundreds of inquiries from families across the U.S. who believed their children might also have the genetic mutation. Some of those were among the 70 that, indeed, had the same mutation as Lilly; others possessed a different genetic variant that formed the basis for another groundbreaking research paper published in 2007.

This summer, Lilly was able to share her remarkable tale with dozens of other children affected by diabetes when she traveled to London. Along with her mother, Laurie Jaffe, she attended a neonatal diabetes conference with the two British researchers who discovered her mutation, Dr. Andrew Hattersley and Dr. Frances Ashcroft.

“That was incredible for Lilly because she got to meet and make friends with some children that were directly affected by her story,” her mother said.

After Lilly’s life-changing switch from injections to pills, Laurie Jaffe began moderating an e-mail discussion among parents with children who have monogenic diabetes. Initially, it was little more than an online support group, but through the discussions the families stumbled onto links between the mutation and neurological issues and began gathering informal data on a brand new field of diabetes research.

Dr. Louis Philipson, medical director of the Kovler Diabetes Center at the University of Chicago, said it was well-known that some diabetes patients with mutations also have neurological problems. Therefore, he and his colleagues follow the family discussion group closely.